RT Journal Article
SR Electronic
T1 Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene
JF Journal of Neurology, Neurosurgery & Psychiatry
JO J Neurol Neurosurg Psychiatry
FD BMJ Publishing Group Ltd
SP 779
OP 782
DO 10.1136/jnnp.66.6.779
VO 66
IS 6
A1 F Chapon
A1 P Latour
A1 P Diraison
A1 S Schaeffer
A1 A Vandenberghe
YR 1999
UL http://jnnp.bmj.com/content/66/6/779.abstract
AB A French family had Charcot-Marie-Tooth disease type 2 (CMT2) which was characterised by late onset of peripheral neuropathy involvement, Argyll Robertson-like pupils, dysphagia, and deafness. Electrophysiological studies and nerve biopsy defined the neuropathy as axonal type. Genetic analysis of myelin protein zero (MPZ) found a mutation in codon 124 resulting in substitution of threonine by methionine. One of the patients, presently 30 years old, showed only Argyll Robertson-like pupils as an objective sign but no clinical or electrophysiological signs of peripheral neuropathy.